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A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report.

ABSTRACT: RATIONALE:Deep vein thrombosis (DVT) is the formation of a blood clot formed in the deep veins of the lower limbs. Known genetic factors of DVT include deficiencies of antithrombin (AT), protein C, protein S, factor V Leiden mutation, and prothrombin G20210A mutation. Here, a 5-generation Chinese family with inherited DVT was recruited for genetic analysis. PATIENT CONCERNS:The patient came to see a doctor because of leg swelling. A color Doppler ultrasound examination showed extensive thrombosis within the deep veins of her left leg. Computed tomography angiography showed a pulmonary embolism in her right lower pulmonary artery. DIAGNOSES:Type II AT deficiency lead to inherited DVT. INTERVENTIONS:Whole-exome sequencing and cosegregation analysis were carried for the DVT family. OUTCOMES:An unreported heterozygous missense variation, c.281T>C, was identified within the SERPINC1 gene. This missense variation of SERPINC1 leads to type II AT deficiency. LESSONS:This result further enriched the variation spectrum of the SERPINC1 gene.

SUBMITTER: Peng Y

PROVIDER: S-EPMC6344114 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report.

Peng Yu Y Wang Tun T Zheng Yu Y Lian Aojie A Zhang Di D Xiong Zhimin Z Hu Zhengmao Z Xia Kun K Shu Chang C

Medicine 20190101 1

<h4>Rationale</h4>Deep vein thrombosis (DVT) is the formation of a blood clot formed in the deep veins of the lower limbs. Known genetic factors of DVT include deficiencies of antithrombin (AT), protein C, protein S, factor V Leiden mutation, and prothrombin G20210A mutation. Here, a 5-generation Chinese family with inherited DVT was recruited for genetic analysis.<h4>Patient concerns</h4>The patient came to see a doctor because of leg swelling. A color Doppler ultrasound examination showed exte ...[more]

PMID: 30608445

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Project description:BackgroundVascular complications of acute pancreatitis are common. Splanchnic thrombosis accounts for 11% of these complications, whereas extrasplanchnic thrombosis remains a rare entity. These complications are associated with high morbidity and mortality. Diagnosis is established on the basis of clinical and radiological evaluation, especially computed tomography. Renal vein thrombosis has been reported previously, but only in association with thrombosis of the inferior vena cava. To our knowledge, renal vein thrombosis without inferior vena cava thrombosis has never been reported in the literature. We report a case of a woman who developed acute pancreatitis complicated with splanchnic thrombosis and renal vein thrombosis with a patent inferior vena cava.Case presentationA 48-year-old Moroccan woman with no significant past medical history presented to our emergency department with worsening epigastric pain and vomiting. Her physical examination was notable only for moderate epigastric tenderness. She was apyrexic and had no jaundice or any features of liver failure. An initial computed tomographic scan showed Balthazar grade C pancreatitis with multiple splanchnic thromboses involving the portal vein, superior mesenteric vein, and left renal vein and enteromesenteric venous infarct with no signs of bowel perforation. The inferior vena cava was patent. Therapeutic anticoagulation and analgesia were started with resumption of enteral feeding 72 h later. The result of a thrombophilia screen was negative. Two months later, the patient was admitted to the intensive care unit with acute liver failure. Computed tomography of the abdomen showed worsening ischemic liver lesions and no signs of bowel perforation. Biochemical analysis showed acute hepatitis with hepatocellular insufficiency. The clinical evolution was unfavorable, and the patient died 48 h later.ConclusionsAssociation of splanchnic and renal vein thrombosis without inferior vena cava thrombosis as a complication of acute pancreatitis has never been reported before. There are no specific aspects of management of this complication; therapeutic anticoagulation and symptomatic treatment are the main measures used owing to the lack of available organs for liver transplant. The prognosis depends on the consequences of splanchnic thrombosis and their complications.

Dataset Information

A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report.

Publications

A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report.

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